ArticleHuman molecular genetics2008
Alterations in the expression, structure and function of progesterone receptor membrane component-1 (PGRMC1) in premature ovarian failure.
Article in Human molecular genetics, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 49 papers, 1 of them a synthesis that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
49 citing papers in PubMed, 1 synthesis or guideline pooled it, 134 citations in OpenAlex.
- The Genetics of Non-Syndromic Primary Ovarian Insufficiency: A Systematic Review.International journal of fertility & sterility · 2019Pooled it
- Fertility preservation in girls and adolescents with Turner syndrome: lessons for reproductive care in differences of sex development - a mini-review.Frontiers in endocrinology · 2026Review
- Hyaluronic Acid in Female Reproductive Health: Tailoring Molecular Weight to Clinical Needs in Obstetric and Gynecological Fields.Pharmaceutics · 2025Review
- Searching for the 'X' factor: investigating the genetics of primary ovarian insufficiency.Journal of ovarian research · 2024Review
- Pleiotropy of Progesterone Receptor Membrane Component 1 in Modulation of Cytochrome P450 Activity.Journal of xenobiotics · 2024Review
- Primary ovarian insufficiency: update on clinical and genetic findings.Frontiers in endocrinology · 2024Review
- Chromosomal abnormalities detected by karyotyping among patients with secondary amenorrhea: a retrospective study.Sao Paulo medical journal = Revista paulista de medicina · 2023Article
- Ovarian dysfunction in women with Turner syndrome.Frontiers in endocrinology · 2023Review
- Membrane-Initiated Estrogen, Androgen, and Progesterone Receptor Signaling in Health and Disease.Endocrine reviews · 2022Review
- Pleiotropic Actions of PGRMC Proteins in Cancer.Endocrinology · 2022Review
- Review
- Estimates of global research productivity in primary ovarian insufficiency from 2000 to 2021: Bibliometric analysis.Frontiers in endocrinology · 2022Article
- What Do We Know about Classical and Non-Classical Progesterone Receptors in the Human Female Reproductive Tract? A Review.International journal of molecular sciences · 2021Review
- Genomic Consideration in Chemotherapy-Induced Ovarian Damage and Fertility Preservation.Genes · 2021Review
- Next Generation Sequencing Should Be Proposed to Every Woman With "Idiopathic" Primary Ovarian Insufficiency.Journal of the Endocrine Society · 2021Article
- Onco-fertility and personalized testing for potential for loss of ovarian reserve in patients undergoing chemotherapy: proposed next steps for development of genetic testing to predict changes in ovarian reserve.Fertility research and practice · 2021Review
- Evaluation of Expression and Phosphorylation of Progesterone Receptor in Endometrial Stromal Cells of Patients with Recurrent Implantation Failure Compared to Healthy Fertile Women.Reproductive sciences (Thousand Oaks, Calif.) · 2021Article
- "Response to the letter to the editor "Concerns regarding the potentially causal role of FANCA heterozygous variants in human primary ovarian insufficiency"".Human genetics · 2021Article
- Progesterone receptor membrane component 1 regulates lipid homeostasis and drives oncogenic signaling resulting in breast cancer progression.Breast cancer research : BCR · 2020Article
- Genetics of Primary Ovarian Insufficiency in the Next-Generation Sequencing Era.Journal of the Endocrine Society · 2020Article
Corrections and comments
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Authors and funding
14 authors at 7 institutions in 4 countries.
Funding
Abstract
Premature ovarian failure (POF) is characterized by hypergonadotropic hypogonadism and amenorrhea before the age of 40. The condition has a heterogeneous background but genetic factors are demonstrated by the occurrence of familial cases. We identified a mother and daughter with POF both of whom carry an X;autosome translocation [t(X;11)(q24;q13)]. RNA expression studies of genes flanking the X-chromosome breakpoint revealed that both patients have reduced expression levels of the gene Progesterone Receptor Membrane Component-1 (PGRMC1). Mutation screening of 67 females with idiopathic POF identified a third patient with a missense mutation (H165R) located in the cytochrome b5 domain of PGRMC1. PGRMC1 mediates the anti-apoptotic action of progesterone in ovarian cells and it acts as a positive regulator of several cytochrome P450 (CYP)-catalyzed reactions. The CYPs are critical for intracellular sterol metabolism, including biosynthesis of steroid hormones. We show that the H165R mutation associated with POF abolishes the binding of cytochrome P450 7A1 (CYP7A1) to PGRMC1. In addition, the missense mutation attenuates PGRMC1's ability to mediate the anti-apoptotic action of progesterone in ovarian cells. These findings suggest that mutant or reduced levels of PGMRC1 may cause POF through impaired activation of the microsomal cytochrome P450 and increased apoptosis of ovarian cells.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.